Canonical Allele Identifier: CA546936888

Gene: HPS3

Linked Data

• dbSNP Id: rs1239447768
• gnomAD v2: 3-148863371-TTA-T
• MyVariant Identifiers: chr3:g.148863372_148863373del (hg19) ; chr3:g.149145585_149145586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145586_149145587del , CM000665.2:g.149145586_149145587del	GRCh38
NC_000003.11:g.148863373_148863374del , CM000665.1:g.148863373_148863374del	GRCh37
NC_000003.10:g.150346063_150346064del	NCBI36
NG_009847.1:g.21003_21004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+40_1163+41del MANE Select	ENSP00000296051.2:n.1163+40_1163+41del
ENST00000296051.6:c.1163+40_1163+41del	ENSP00000296051.2:n.1163+40_1163+41del
ENST00000460120.5:c.668+40_668+41del	ENSP00000418230.1:n.668+40_668+41del
ENST00000462030.5:n.1762+40_1762+41del
ENST00000486530.1:n.1196+40_1196+41del
NM_001308258.1:c.668+40_668+41del	NP_001295187.1:n.668+40_668+41del
NM_032383.3:c.1163+40_1163+41del	NP_115759.2:n.1163+40_1163+41del
NM_032383.4:c.1163+40_1163+41del	NP_115759.2:n.1163+40_1163+41del
XM_005247834.3:c.1163+40_1163+41del	XP_005247891.1:n.1163+40_1163+41del
XM_006713788.1:c.1163+40_1163+41del	XP_006713851.1:n.1163+40_1163+41del
XR_924201.1:n.1278+40_1278+41del
XM_005247834.4:c.1163+40_1163+41del	XP_005247891.1:n.1163+40_1163+41del
XM_017007323.2:c.1163+40_1163+41del	XP_016862812.1:n.1163+40_1163+41del
XR_001740326.2:n.1263+40_1263+41del
XR_001740327.2:n.1263+40_1263+41del
XR_001740328.2:n.1263+40_1263+41del
XR_924201.3:n.1263+40_1263+41del
NM_001308258.2:c.668+40_668+41del	NP_001295187.1:n.668+40_668+41del
NM_032383.5:c.1163+40_1163+41del MANE Select	NP_115759.2:n.1163+40_1163+41del